L14M (p.Leu14Met) variant of DSP (Desmoplakin)
L14M (p.Leu14Met) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiovascular ph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- TOPMed rs1282398925
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiovascular ph
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.59
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.47
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available